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    Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study by Maria Fuller, Jasmina Markulić

    Published 2025-01-01
    “…Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.Design A retrospective study over a 5-year period (January 2018–December 2022).Setting A single pathology service in South Australia.Participants A total of 1909 CF test referrals from patients with clinical suspicion indicated by respiratory and gastrointestinal manifestations, foetal echogenic bowel and male infertility and asymptomatic CF requests for reproductive carrier screening.Primary and secondary outcome measures The number and type of CFTR gene variants detected in symptomatic and asymptomatic testing referrals.Results A total of 25 patients were diagnosed with CF or CF-related disorders (2.5%) with gastrointestinal symptoms yielding the highest diagnostic rate of 4.4%. …”
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    The Use of Digital Microscopy to Compare the Thicknesses of Normal Corneas and Ex Vivo Rejected Corneal Grafts with a Focus on the Descemet’s Membrane by Taíse Tognon, Sabrina Bergeron, Christina Mastromonaco, Kleyton Barella, Adriano Pasqualotti, Laura Nunez, Francisco Murta, Luciene Barbosa de Sousa, Mauro Campos, Miguel Noel Nascentes Burnier

    Published 2019-01-01
    “…This is a prospective, cross-sectional study performed at the MUHC-McGill University Ocular Pathology & Translational Research Laboratory (McGill University, Montreal, Canada). …”
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